Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB c.*110T>C
(
ENST00000335295.4,
ENST00000647020.1 )
HBB c.*110T>A ( ENST00000647020.1, ENST00000335295.4 )
HBB p.Leu115Pro (p.L115P) ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-3C>T ( ENST00000647020.1, ENST00000335295.4 )
HBB c.316-3C>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-3C>A ( ENST00000647020.1, ENST00000335295.4 )
HBB c.316-146T>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.-79A>G ( ENST00000647020.1 )
HBB c.-137C>T ( ENST00000647020.1 )
HBB c.-137C>G ( ENST00000647020.1 )
HBB c.-137C>A ( ENST00000647020.1 )
HBB c.-138C>T ( ENST00000647020.1 )
HBB c.-138C>G ( ENST00000647020.1 )
HBB c.-138C>A ( ENST00000647020.1 )
HBB c.-140C>T ( ENST00000647020.1 )
HBB c.*110T>C ( ENST00000335295.4, ENST00000647020.1 )
HBB c.*110T>A ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Leu115Pro (p.L115P) ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-3C>T ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-3C>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-3C>A ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-146T>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.-79A>G ( ENST00000647020.1 )
HBB c.-137C>T ( ENST00000647020.1 )
HBB c.-137C>G ( ENST00000647020.1 )
HBB c.-137C>A ( ENST00000647020.1 )
HBB c.-138C>T ( ENST00000647020.1 )
HBB c.-138C>G ( ENST00000647020.1 )
HBB c.-138C>A ( ENST00000647020.1 )
HBB c.-140C>T ( ENST00000647020.1 ) - Associated Disease
- Beta thalassemia intermedia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.244071628081205
- Year of publication
- NA
Drugs